ARNT, TANGO, HIF1BETA (1q21.3) edistää xenobioottimetabolian geenien ilmentymää

https://www.ncbi.nlm.nih.gov/gene/405

Official Symbol

ARNTprovided by HGNC

Official Full Name

aryl hydrocarbon receptor nuclear translocator provided by HGNC

Also known as

HIF1B; TANGO; bHLHe2; HIF1BETA; HIF-1beta; HIF1-beta; HIF-1-beta

Summary

This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]

Expression

Ubiquitous expression in ovary (RPKM 16.9), placenta (RPKM 14.7) and 25 other tissues See more

Orthologs

mouse all

Preferred Names

aryl hydrocarbon receptor nuclear translocator

Names

class E basic helix-loop-helix protein 2

dioxin receptor, nuclear translocator

hypoxia-inducible factor 1, beta subunit

PAS; PAS domain

cd00130
Location:347 → 443

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in  in signal transduction.

pfam00010
Location:76 → 128

HLH; Helix-loop-helix DNA-binding domain

pfam00989
Location:148 → 254

PAS; PAS fold

pfam14598
Location:347 → 447

PAS_11; PAS domainThis family includes the PAS-B domain of NCOA1 (Nuclear receptor coactivator 1), which binds to an LXXLL motif in the C-terminal region of STAT6 (Signal transducer and activator of transcription 6).

ORIGIN      
        1 maattanpem tsdvpslgpa iasgnsgpgi qgggaivqra ikrrpgldfd ddgegnskfl
       61 rcdddqmsnd kerfarenhs eierrrrnkm tayitelsdm vptcsalark pdkltilrma
      121 vshmkslrgt gntstdgsyk psfltdqelk hlileaadgf lfivscetgr vvyvsdsvtp
      181 vlnqpqsewf gstlydqvhp ddvdklreql stsenaltgr ildlktgtvk kegqqssmrm
      241 cmgsrrsfic rmrcgsssvd pvsvnrlsfv rnrcrnglgs vkdgephfvv vhctgyikaw
      301 ppagvslpdd dpeagqgskf clvaigrlqv tsspnctdms nvcqptefis rhniegiftf
      361 vdhrcvatvg yqpqellgkn ivefchpedq qllrdsfqqv vklkgqvlsv mfrfrsknqe
      421 wlwmrtssft fqnpysdeie yiictntnvk nssqeprptl sntiqrpqlg ptanlplemg
      481 sgqlaprqqq qqteldmvpg rdglasynhs qvvqpvtttg pehskpleks dglfaqdrdp
      541 rfseiyhnin adqskgisss tvpatqqlfs qgntfpptpr paenfrnsgl appvtivqps
      601 asagqmlaqi srhsnptqga tptwtpttrs gfsaqvatqa taktrtsqfg vgsfqtpssf
      661 ssmslpgapt aspgaaayps ltnrgsnfap etgqtagqfq trtaegvgvw pqwqgqqphh
      721 rsssseqhvq qppaqqpgqp evfqemlsml gdqsnsynne efpdltmfpp fse
//